Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
FAM71F1 | ENSG00000135248 | ENST00000485070 | p.Q234L | c.701A>T | Missense_Mutation | - |
PRSS36 | ENSG00000178226 | ENST00000268281 | p.G651A | c.1952G>C | Missense_Mutation | - |
PCDHB4 | ENSG00000081818 | ENST00000194152 | p.E39* | c.115G>T | Nonsense_Mutation | - |
CYLC2 | ENSG00000155833 | ENST00000374798 | p.K193N | c.579A>C | Missense_Mutation | - |
LRRK2 | ENSG00000188906 | ENST00000298910 | p.L1304H | c.3911T>A | Missense_Mutation | - |
LRRK2 | ENSG00000188906 | ENST00000298910 | p.K1383Q | c.4147A>C | Missense_Mutation | - |
C1orf189 | ENSG00000163263 | ENST00000368525 | p.V98E | c.293T>A | Missense_Mutation | - |
TLR2 | ENSG00000137462 | ENST00000260010 | p.Q187L | c.560A>T | Missense_Mutation | - |
IVNS1ABP | ENSG00000116679 | ENST00000367498 | NA | NA | De_novo_Start_OutOfFrame | - |
BRF1 | ENSG00000185024 | ENST00000546474 | p.S564C | c.1690A>T | Missense_Mutation | - |